Goldstein A M, Tucker M A, Crutcher W A, Hartge P, Sagebiel R W
Environmental Epidemiology Branch, National Cancer Institute, Bethesda, MD 20892.
Melanoma Res. 1993 Feb;3(1):15-22. doi: 10.1097/00008390-199304000-00003.
Dysplastic naevi (DN) are the major precursor lesions of malignant melanoma, yet the presumed mode of inheritance or genetic aetiology of DN remains controversial. The inheritance pattern of DN in families from a randomly selected population of 26 dysplastic naevus patients was investigated by estimating the segregation ratio in families ascertained through an offspring with DN (incomplete ascertainment). For families ascertained through a parent with DN (complete ascertainment) the transmission pattern was examined by comparing the observed number of affected offspring to the expected number using a chi 2 goodness-of-fit test. Results from the chi 2 tests and the estimated segregation ratio of 0.52 (95% confidence interval: 0.31, 0.73) suggest that the inheritance pattern for dysplastic naevi in these families is consistent with autosomal dominant transmission, although the present study was limited because of a small sample size. The findings, therefore, need to be confirmed by a much larger study that is able to test more rigorously specific genetic hypotheses.
发育异常痣（DN）是恶性黑色素瘤的主要前驱病变，然而，DN的假定遗传模式或遗传病因仍存在争议。通过估计经患有DN的后代确诊的家庭中的分离率（不完全确诊），对来自26名发育异常痣患者的随机选择人群中的家庭中DN的遗传模式进行了研究。对于经患有DN的父母确诊的家庭（完全确诊），使用卡方拟合优度检验，通过比较观察到的受影响后代数量与预期数量来检查遗传模式。卡方检验结果和估计的分离率0.52（95%置信区间：0.31，0.73）表明，这些家庭中发育异常痣的遗传模式与常染色体显性遗传一致，尽管由于样本量小，本研究存在局限性。因此，这些发现需要通过一项规模大得多的研究来证实，该研究能够更严格地检验特定的遗传假设。
